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De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M. Sajan SA, et al. Among authors: jayakar a. Eur J Hum Genet. 2024 Apr 2. doi: 10.1038/s41431-024-01600-3. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38565639
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L, Larson A, Salz L, Veith R, Tsai JP, Jayakar A, Chapman R, Gupta A, Kingsmore SF, Dimmock D, Bedrick A, Galindo MK, Casas K, Mohamed M, Straight L, Khan MA, Salyakina D. Thompson L, et al. Among authors: jayakar a. Front Pediatr. 2024 Feb 19;12:1349519. doi: 10.3389/fped.2024.1349519. eCollection 2024. Front Pediatr. 2024. PMID: 38440187 Free PMC article.
Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.
Diaby V, Babcock A, Huang Y, Moussa RK, Espinal PS, Janvier M, Soler D, Gupta A, Jayakar P, Diaz-Barbosa M, Totapally B, Sasaki J, Jayakar A, Salyakina D. Diaby V, et al. Among authors: jayakar a. Pharmacogenomics J. 2022 Jul;22(4):223-229. doi: 10.1038/s41397-022-00277-5. Epub 2022 Apr 18. Pharmacogenomics J. 2022. PMID: 35436997
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Scala M, et al. Among authors: jayakar a. Hum Mutat. 2022 Mar;43(3):403-419. doi: 10.1002/humu.24326. Epub 2022 Jan 12. Hum Mutat. 2022. PMID: 34989426 Free PMC article.
A Survey of Neuromonitoring Practices in North American Pediatric Intensive Care Units.
Kirschen MP, LaRovere K, Balakrishnan B, Erklauer J, Francoeur C, Ganesan SL, Jayakar A, Lovett M, Luchette M, Press CA, Wolf M, Ferrazzano P, Wainwright MS, Appavu B; Pediatric Neurocritical Care Research Group (PNCRG). Kirschen MP, et al. Among authors: jayakar a. Pediatr Neurol. 2022 Jan;126:125-130. doi: 10.1016/j.pediatrneurol.2021.11.002. Epub 2021 Nov 12. Pediatr Neurol. 2022. PMID: 34864306 Free PMC article.
Pediatric Acute Stroke Protocols in the United States and Canada.
Harrar DB, Benedetti GM, Jayakar A, Carpenter JL, Mangum TK, Chung M, Appavu B; International Pediatric Stroke Study Group and Pediatric Neurocritical Care Research Group. Harrar DB, et al. Among authors: jayakar a. J Pediatr. 2022 Mar;242:220-227.e7. doi: 10.1016/j.jpeds.2021.10.048. Epub 2021 Nov 11. J Pediatr. 2022. PMID: 34774972
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Febres-Aldana CA, Pelaez L, Wright MS, Maher OM, Febres-Aldana AJ, Sasaki J, Jayakar P, Jayakar A, Diaz-Barbosa M, Janvier M, Totapally B, Salyakina D, Galvez-Silva JR. Febres-Aldana CA, et al. Among authors: jayakar a. Mol Syndromol. 2020 Dec;11(5-6):320-329. doi: 10.1159/000511343. Epub 2020 Oct 29. Mol Syndromol. 2020. PMID: 33510604 Free PMC article.
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